title: [Familial aortic dissection of non-Marfan syndrome with mutations in the transforming growth factor-beta receptor type 1 genes].
abstract: Marfan syndrome is an inherited connective tissue disorder with ocular, skeletal and cardiovascular systems and often causes acute aortic dissection. Interestingly, there have been several reports of familial thoracic aortic dissection in patients with autosomal dominant diseases without Marfan syndrome. Variation of the transforming growth factor-beta receptor (TGFBR) gene is reported to be one of the causes. We report a case of a familial aortic dissection not associated with Marfan syndrome, with mutation of TGFBR type 1. Hereditary aortic dissection of the non-Marfan syndrome that does not have clinical manifestations is not uncommon. Thus, the existence of familial aortic aneurysm should be in mind in diagnosis and treatment.
authors.affiliation: Department of Cardiac Surgery, Yamaguchi University, Ube, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Suzuki
authors.forename: Akihito
authors.initials: A
authors.lastname: Mikamo
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kurazumi
authors.forename: Masafumi
authors.initials: M
authors.lastname: Sato
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Ikeda
authors.forename: Bungo
authors.initials: B
authors.lastname: Shirasawa
authors.forename: Kimikazu
authors.initials: K
authors.lastname: Hamano
mesh_terms: D000328:Adult; D000784:Aortic Dissection / Q000235:genetics*; D001014:Aortic Aneurysm / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I